Variant report

Variant	rs2128719
Chromosome Location	chr2:48374595-48374596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48370722..48375338-chr2:48376531..48380456,5	K562	blood:
2	chr2:48373325..48375853-chr2:48381099..48383887,3	K562	blood:
3	chr2:48360848..48364521-chr2:48372620..48374776,4	K562	blood:
4	chr2:48372617..48375586-chr2:48381914..48383881,2	K562	blood:
5	chr2:48370508..48374729-chr2:48375813..48379689,4	K562	blood:
6	chr2:48338775..48341219-chr2:48373264..48375327,2	K562	blood:
7	chr2:48360848..48365777-chr2:48371665..48375027,6	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11125165	0.93[ASN][1000 genomes]
rs11125166	0.86[ASN][1000 genomes]
rs1601063	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2136456	0.86[ASN][1000 genomes]
rs2348717	0.83[ASN][1000 genomes]
rs2348718	0.86[ASN][1000 genomes]
rs2882003	0.93[ASN][1000 genomes]
rs4146603	0.93[ASN][1000 genomes]
rs4952905	0.86[ASN][1000 genomes]
rs4953548	0.83[ASN][1000 genomes]
rs4953549	0.83[ASN][1000 genomes]
rs4953552	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4953553	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4953555	0.93[ASN][1000 genomes]
rs4953556	0.93[ASN][1000 genomes]
rs4953557	0.93[ASN][1000 genomes]
rs58178746	0.93[ASN][1000 genomes]
rs58525908	0.93[ASN][1000 genomes]
rs6545021	0.83[ASN][1000 genomes]
rs6545023	0.93[ASN][1000 genomes]
rs6712238	0.83[ASN][1000 genomes]
rs6718037	0.83[ASN][1000 genomes]
rs6722407	0.83[ASN][1000 genomes]
rs6723952	0.83[ASN][1000 genomes]
rs7570354	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7589460	0.83[ASN][1000 genomes]
rs7605361	0.83[ASN][1000 genomes]
rs7609124	0.83[ASN][1000 genomes]
rs922902	0.93[ASN][1000 genomes]
rs922903	0.83[ASN][1000 genomes]
rs9677729	0.93[ASN][1000 genomes]
rs973894	0.93[ASN][1000 genomes]
rs990063	0.93[ASN][1000 genomes]
rs990549	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48371800-48374600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:48371800-48374600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:48372800-48375000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:48373400-48375600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:48373400-48376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:48373600-48375200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:48373600-48376000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:48373600-48376200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:48374000-48374600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:48374000-48375000	Weak transcription	Dnd41	blood
11	chr2:48374400-48376000	Weak transcription	K562	blood

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